rs28931582

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs28931582(G;G)

Make rs28931582(G;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35792751

Gene

NPR2

is a	snp
is	mentioned by
dbSNP	rs28931582
dbSNP (classic)	rs28931582
ClinGen	rs28931582
ebi	rs28931582
HLI	rs28931582
Exac	rs28931582
Gnomad	rs28931582
Varsome	rs28931582
LitVar	rs28931582
Map	rs28931582
PheGenI	rs28931582
Biobank	rs28931582
1000 genomes	rs28931582
hgdp	rs28931582
ensembl	rs28931582
geneview	rs28931582
scholar	rs28931582
google	rs28931582
pharmgkb	rs28931582
gwascentral	rs28931582
openSNP	rs28931582
23andMe	rs28931582
SNPshot	rs28931582
SNPdbe	rs28931582
MSV3d	rs28931582
GWAS Ctlg	rs28931582

Max Magnitude

0

OMIM	108961
Desc	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Variant	0002
Related	also

ClinVar
Risk	rs28931582(G;G)
Alt	rs28931582(G;G)
Reference	Rs28931582(T;T)
Significance	Pathogenic
Disease	Acromesomelic dysplasia Maroteaux type
Variation	info
Gene	NPR2
CLNDBN	Acromesomelic dysplasia Maroteaux type
Reversed	0
HGVS	NC_000009.11:g.35792748T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019363.26,